Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
About this item
Full title
Author / Creator
Mignot, Cyril , Apartis, Emmanuelle , Durr, Alexandra , Marques Lourenço, Charles , Charles, Perrine , Devos, David , Moreau, Caroline , de Lonlay, Pascale , Drouot, Nathalie , Burglen, Lydie , Kempf, Nadine , Nourisson, Elsa , Chantot-Bastaraud, Sandra , Lebre, Anne-Sophie , Rio, Marlène , Chaix, Yves , Bieth, Eric , Roze, Emmanuel , Bonnet, Isabelle , Canaple, Sandrine , Rastel, Coralie , Brice, Alexis , Rötig, Agnès , Desguerre, Isabelle , Tranchant, Christine , Koenig, Michel and Anheim, Mathieu
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of the twenty-one patients reported worldwide varies greatly. Thus, it is difficult to decide which ataxic patients are good candidates for ADCK3 screening without evidence o...
Alternative Titles
Full title
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Authors, Artists and Contributors
Author / Creator
Apartis, Emmanuelle
Durr, Alexandra
Marques Lourenço, Charles
Charles, Perrine
Devos, David
Moreau, Caroline
de Lonlay, Pascale
Drouot, Nathalie
Burglen, Lydie
Kempf, Nadine
Nourisson, Elsa
Chantot-Bastaraud, Sandra
Lebre, Anne-Sophie
Rio, Marlène
Chaix, Yves
Bieth, Eric
Roze, Emmanuel
Bonnet, Isabelle
Canaple, Sandrine
Rastel, Coralie
Brice, Alexis
Rötig, Agnès
Desguerre, Isabelle
Tranchant, Christine
Koenig, Michel
Anheim, Mathieu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3843540
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3843540
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-173
